Canonical Allele Identifier: CA144444

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 56766
• ClinVar RCV Id: RCV000050179
• dbSNP Id: rs386834184
• gnomAD v4: 8-93786270-G-C
• MyVariant Identifiers: chr8:g.94798498G>C (hg19) ; chr8:g.93786270G>C (hg38)
• PubMed: PMID:17397051

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786270G>C , CM000670.2:g.93786270G>C	GRCh38
NC_000008.10:g.94798498G>C , CM000670.1:g.94798498G>C	GRCh37
NC_000008.9:g.94867674G>C	NCBI36
NG_009190.1:g.36427G>C , LRG_688:g.36427G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.1336G>C	ENSP00000314488.4:p.Asp446His
ENST00000409623.8:c.1291G>C	ENSP00000386966.4:p.Asp431His
ENST00000452276.6:c.1336G>C	ENSP00000388671.2:p.Asp446His
ENST00000453906.6:c.454G>C	ENSP00000403035.2:p.Asp152His
ENST00000520680.2:c.1336G>C	ENSP00000428785.2:p.Asp446His
ENST00000521517.6:c.1336G>C	ENSP00000430740.2:p.Asp446His
ENST00000681998.1:c.1157G>C	ENSP00000506773.1:n.1157G>C
ENST00000682036.1:c.454G>C	ENSP00000508390.1:p.Asp152His
ENST00000682577.1:c.1109G>C	ENSP00000506963.1:n.1109G>C
ENST00000682624.1:c.*910G>C	ENSP00000508343.1:n.*910G>C
ENST00000682700.1:c.1336G>C	ENSP00000507627.1:p.Asp446His
ENST00000682744.1:n.874G>C
ENST00000682804.1:n.1159G>C
ENST00000682837.1:c.825G>C	ENSP00000507920.1:n.825G>C
ENST00000682935.1:n.3386G>C
ENST00000682984.1:c.997G>C	ENSP00000507209.1:p.Asp333His
ENST00000683078.1:c.1091G>C	ENSP00000506796.1:n.1091G>C
ENST00000683223.1:c.1068G>C	ENSP00000507685.1:n.1068G>C
ENST00000683238.1:n.2560G>C
ENST00000683249.1:n.2933G>C
ENST00000683336.1:c.1157G>C	ENSP00000507695.1:n.1157G>C
ENST00000683362.1:c.997G>C	ENSP00000506985.1:p.Asp333His
ENST00000683850.1:n.1259G>C
ENST00000683919.1:c.1266G>C	ENSP00000507617.1:n.1266G>C
ENST00000683953.1:c.1247G>C	ENSP00000508375.1:n.1247G>C
ENST00000684023.1:c.1313G>C	ENSP00000507461.1:n.1313G>C
ENST00000684064.1:c.1027G>C	ENSP00000508192.1:p.Asp343His
ENST00000684089.1:n.2886G>C
ENST00000684149.1:c.*515G>C	ENSP00000507943.1:n.*515G>C
ENST00000684416.1:n.1295G>C
ENST00000684540.1:c.1266G>C	ENSP00000507987.1:n.1266G>C
ENST00000453321.8:c.1336G>C MANE Select	ENSP00000389998.3:p.Asp446His
ENST00000323130.7:c.1306G>C	ENSP00000314488.3:p.Asp436His
ENST00000409623.7:c.1093G>C	ENSP00000386966.3:p.Asp365His
ENST00000452276.5:c.1027G>C	ENSP00000388671.1:p.Asp343His
ENST00000453321.7:c.1336G>C	ENSP00000389998.3:p.Asp446His
ENST00000453906.5:c.454G>C	ENSP00000403035.1:p.Asp152His
ENST00000474944.5:n.474G>C
ENST00000520680.1:c.158G>C
NM_001142301.1:c.1093G>C , LRG_688t2:c.1093G>C	NP_001135773.1:p.Asp365His
NM_153704.5:c.1336G>C , LRG_688t1:c.1336G>C	NP_714915.3:p.Asp446His
NR_024522.1:n.1407G>C
XM_006716686.2:c.1033G>C	XP_006716749.1:p.Asp345His
XM_006716687.2:c.736G>C	XP_006716750.1:p.Asp246His
XM_011517363.1:c.454G>C	XP_011515665.1:p.Asp152His
XR_428387.1:n.1394G>C
XR_928360.1:n.1394G>C
XR_928361.1:n.1394G>C
XR_928362.1:n.1394G>C
XM_006716686.4:c.1033G>C	XP_006716749.1:p.Asp345His
XM_011517363.3:c.454G>C	XP_011515665.1:p.Asp152His
XM_024447326.1:c.682G>C	XP_024303094.1:p.Asp228His
XR_001745619.2:n.1377G>C
XR_428387.2:n.1377G>C
XR_928360.3:n.1377G>C
XR_928362.3:n.1377G>C
NM_153704.6:c.1336G>C MANE Select	NP_714915.3:p.Asp446His
NR_024522.2:n.1357G>C